Cataracts

Gene: XYLT2

Green List (high evidence)

XYLT2 (xylosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000015532
EnsemblGeneIds (GRCh37): ENSG00000015532
OMIM: 608125, Gene2Phenotype
XYLT2 is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

XYLT2 is associated with a phenotype on OMIM and probably associated with a phenotype on Gene2Phenotype. There are >3 unrelated cases of patients with Spondyloocular Syndrome who have cataracts who have different variants in the XYLT2 gene. Therfore, there is enough evidence for this gene to be green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: XYLT2; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31

Publications

History Filter Activity

28 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: XYLT2 was added gene: XYLT2 was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XYLT2 were set to 26987875; 26027496; 28884924; 30496831; 29136277 Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822